770723007: Optic atrophy, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Optic atrophy, intellectual disability syndrome (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\...

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Optic atrophy, intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Optic atrophy, intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Optic atrophy, intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Optic atrophy, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Optic atrophy, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3702249014 Bosch Boonstra Schaaf optic atrophy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3702250014 BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3702251013 Optic atrophy, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702252018 Optic atrophy, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404895017 Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404896016 Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterised by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviours. Dysmorphic facial features are variable and nonspecific. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Optic atrophy, intellectual disability syndrome (disorder)	Is a	Dominant hereditary optic atrophy	true	Inferred relationship	Some
Optic atrophy, intellectual disability syndrome (disorder)	Associated morphology	Primary atrophy	true	Inferred relationship	Some	1
Optic atrophy, intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Optic atrophy, intellectual disability syndrome (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
Optic atrophy, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Optic atrophy, intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Optic atrophy, intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Optic atrophy, intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Optic atrophy, intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Optic atrophy, intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3702249014	Bosch Boonstra Schaaf optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702250014	BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702251013	Optic atrophy, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702252018	Optic atrophy, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404895017	Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404896016	Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterised by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviours. Dysmorphic facial features are variable and nonspecific.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core